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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Gba1
glucosylceramidase beta 1
MGI:95665
111 phenotypes from 19 alleles in 19 genetic backgrounds
Export: Excel File
Allelic Composition
Genetic Background
Annotated Term Reference
Gba1em1(IMPC)H/Gba1+
C57BL/6N-Gba1em1(IMPC)H/H
increased circulating amylase level J:211773
increased mean platelet volume J:211773
prolonged QRS complex duration J:211773
Gba1em1(IMPC)H/Gba1em1(IMPC)H
C57BL/6N-Gba1em1(IMPC)H/H
preweaning lethality, complete penetrance J:211773
Gba1tm1.1Clk/Gba1tm1.1Clk
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
aphagia J:117763
neonatal lethality, complete penetrance J:117763
reddish skin J:117763
wrinkled skin J:117763
Gba1tm1.1Eginn/Gba1tm1.1Eginn
involves: 129X1/SvJ * C57BL/6
abnormal enzyme/coenzyme activity J:211953
abnormal striatum morphology J:211953
alpha-synuclein inclusion body J:211953
astrocytosis J:211953
Gba1tm1.1Karl/Gba1+
involves: 129S1/Sv * 129X1/SvJ
abnormal enzyme/coenzyme activity J:113751
Gba1tm1.1Karl/Gba1tm1.1Karl
involves: 129S1/Sv * 129X1/SvJ
neonatal lethality, complete penetrance J:113751
Gba1tm1.1Mjff/Gba1+
C57BL/6NTac-Gba1tm1.1Mjff
no abnormal phenotype detected J:101977
Gba1tm1.1Pmis/Gba1tm1.1Pmis
Tg(Mx1-cre)1Cgn/0
involves: C57BL/6 * CBA
abnormal circulating chemokine level J:167081
abnormal circulating cytokine level J:167081
abnormal osteoblast differentiation J:167081
abnormal skeleton physiology J:167081
abnormal T cell differentiation J:167081
abnormal thymus morphology J:167081
abnormal trabecular bone morphology J:167081
decreased body size J:167081
decreased bone mineral density J:167081
decreased bone ossification J:167081
decreased circulating HDL cholesterol level J:167081
decreased circulating interleukin-1 alpha level J:167081
decreased circulating interleukin-1 beta level J:167081
decreased circulating interleukin-6 level J:167081
decreased circulating tumor necrosis factor level J:167081
decreased double-positive T cell number J:167081
decreased hemoglobin content J:167081
enlarged liver J:167081
enlarged spleen J:167081
extramedullary hematopoiesis J:167081
increased circulating aspartate transaminase level J:167081
increased circulating interferon-gamma level J:167081
increased circulating interleukin-2 level J:167081
increased circulating interleukin-3 level J:167081
increased circulating interleukin-9 level J:167081
increased circulating interleukin-10 level J:167081
increased circulating interleukin-13 level J:167081
increased liver weight J:167081
kyphosis J:167081
pallor J:167081
spleen hyperplasia J:167081
Gba1tm1.1Pmis/Gba1tm1.2Pmis
Tg(Mx1-cre)1Cgn/0
involves: C57BL/6 * CBA
abnormal circulating chemokine level J:167081
abnormal circulating cytokine level J:167081
abnormal osteoblast differentiation J:167081
abnormal skeleton physiology J:167081
abnormal T cell differentiation J:167081
abnormal thymus morphology J:167081
abnormal trabecular bone morphology J:167081
decreased body size J:167081
decreased bone mineral density J:167081
decreased bone ossification J:167081
decreased circulating HDL cholesterol level J:167081
decreased circulating interleukin-1 alpha level J:167081
decreased circulating interleukin-1 beta level J:167081
decreased circulating interleukin-6 level J:167081
decreased circulating tumor necrosis factor level J:167081
decreased double-positive T cell number J:167081
decreased hemoglobin content J:167081
enlarged liver J:167081
enlarged spleen J:167081
extramedullary hematopoiesis J:167081
increased circulating aspartate transaminase level J:167081
increased circulating interferon-gamma level J:167081
increased circulating interleukin-2 level J:167081
increased circulating interleukin-3 level J:167081
increased circulating interleukin-9 level J:167081
increased circulating interleukin-10 level J:167081
increased circulating interleukin-13 level J:167081
increased liver weight J:167081
kyphosis J:167081
pallor J:167081
spleen hyperplasia J:167081
Gba1tm1.1Smoc/Gba1tm1.1Smoc
involves: C57BL/6J
abnormal epidermis stratum corneum morphology J:325557
abnormal epidermis stratum granulosum morphology J:325557
abnormal epidermis stratum spinosum morphology J:325557
abnormal skin turgor J:325557
decreased body size J:325557
postnatal lethality, complete penetrance J:325557
reddish skin J:325557
wrinkled skin J:325557
Gba1tm1Clk/Gba1tm1.1Clk
Lyz2tm1(cre)Ifo/Lyz2+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J
abnormal enzyme/coenzyme activity J:117763
Gba1tm1Clk/Gba1tm1.1Clk
Tg(EIIa-cre)C5379Lmgd/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
abnormal enzyme/coenzyme activity J:117763
Gba1tm1Clk/Gba1tm1.1Clk
Tg(Tek-cre)12Flv/0
involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J
abnormal bone marrow morphology J:117763
abnormal enzyme/coenzyme activity J:117763
abnormal liver morphology J:117763
abnormal macrophage morphology J:117763
abnormal spleen morphology J:117763
increased spleen weight J:117763
Gba1tm1Ggb/Gba1tm1Ggb
involves: 129S5/SvEvBrd * C57BL/6
abnormal skin condition J:86334
dry skin J:86334
perinatal lethality, complete penetrance J:86334
wrinkled skin J:86334
Gba1tm1Karl/Gba1tm1.1Karl
Tg(Mx1-cre)1Cgn/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
abnormal bone marrow morphology J:113751
abnormal enzyme/coenzyme activity J:113751
abnormal immune system organ morphology J:113751
abnormal response to transplant J:113751
abnormal spleen morphology J:113751
decreased hematocrit J:113751
decreased hemoglobin content J:113751
decreased mean corpuscular volume J:113751
enlarged liver J:113751
enlarged spleen J:113751
intermingled spleen red and white pulp J:113751
pale liver J:113751
Gba1tm1Karl/Gba1tm1Karl
Tg(Nes-cre)1Kln/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
abnormal brain morphology J:127108
abnormal gait J:127108
abnormal lipid homeostasis J:127108
abnormal microglial cell morphology J:127108
astrocytosis J:127108
neuron degeneration J:127108
paralysis J:127108
premature death J:127108
seizures J:127108
Gba1tm1Nsb/Gba1tm1Nsb
involves: 129S/SvEv * C57BL/6
abnormal food intake J:1100
abnormal macrophage morphology J:1100
abnormal respiration J:1100
akinesia J:1100
cyanosis J:1100
decreased birth weight J:1100
perinatal lethality J:1100
Gba1tm1Rlp/Gba1tm1Rlp
involves: 129S4/SvJae
hyperkeratosis J:46243
postnatal lethality, complete penetrance J:46243
reddish skin J:46243
wrinkled skin J:46243
Gba1tm1Rlp/Gba1tm1Rlp
involves: 129S4/SvJae * C57BL/6
abnormal enzyme/coenzyme activity J:76409
abnormal inflammatory response J:76409
abnormal Kupffer cell morphology J:76409
abnormal lymph node morphology J:76409
abnormal macrophage morphology J:76409
abnormal spleen physiology J:76409
anemia J:76409
decreased body weight J:76409
decreased circulating cholesterol level J:76409
decreased erythrocyte cell number J:76409
decreased hematocrit J:76409
decreased hemoglobin content J:76409
decreased leukocyte cell number J:76409
decreased survivor rate J:76409
enlarged liver J:76409
hyperkeratosis J:76409
increased circulating alanine transaminase level J:76409
increased circulating aspartate transaminase level J:76409
increased hepatocyte apoptosis J:76409
increased IgG level J:76409
increased liver weight J:76409
increased spleen weight J:76409
lipofuscinosis J:76409
liver inflammation J:76409
lung inflammation J:76409
lymph node inflammation J:76409
postnatal lethality, incomplete penetrance J:76409
normal skeleton phenotype J:76409
skin inflammation J:76409
thick epidermis J:76409
Gba1tm2.1Eginn/Gba1tm2.1Eginn
involves: 129X1/SvJ * C57BL/6
abnormal enzyme/coenzyme activity J:211953
abnormal striatum morphology J:211953
alpha-synuclein inclusion body J:211953
astrocytosis J:211953
Gba1tm2Ggb/Gba1tm1Nsb
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6
abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
Gba1tm2Ggb/Gba1tm2Ggb
involves: 129S5/SvEvBrd * C57BL/6
abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
Gba1tm2Karl/Gba1tm2Karl
involves: 129S1/Sv * 129X1/SvJ
abnormal skin condition J:127108
neonatal lethality, complete penetrance J:127108
Gba1tm2Karl/Gba1tm2Karl
Tg(KRT14-cre)8Brn/?
involves: 129S1/Sv * 129X1/SvJ * FVB/N
abnormal brain morphology J:127108
abnormal gait J:127108
abnormal lipid homeostasis J:127108
abnormal macrophage morphology J:127108
abnormal neuron morphology J:127108
decreased brain size J:127108
decreased cerebral cortex pyramidal cell number J:127108
decreased Purkinje cell number J:127108
hippocampal neuron degeneration J:127108
paralysis J:127108
postnatal lethality J:127108
seizures J:127108
Gba1tm2Rlp/Gba1tm2Rlp
involves: 129S4/SvJae
absent gastric milk in neonates J:46243
decreased birth body size J:46243
decreased skin turgor J:46243
dehydration J:46243
hyperkeratosis J:46243
postnatal lethality, complete penetrance J:46243
reddish skin J:46243
wrinkled skin J:46243
Gba1tm3Ggb/Gba1tm1Nsb
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6
abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
Gba1tm3Ggb/Gba1tm3Ggb
involves: 129S5/SvEvBrd
abnormal brain morphology J:174780
abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
Gba1tm4Ggb/Gba1tm1Nsb
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6
abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334
Gba1tm4Ggb/Gba1tm4Ggb
involves: 129S5/SvEvBrd * C57BL/6
abnormal liver physiology J:86334
abnormal pulmonary circulation J:86334
abnormal spleen morphology J:86334

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory